E-ISSN 1658-8088 | ISSN 1658-807X
 
2024, Vol: 7, Issue: 2
7 / 2Current Issue Online First Archive Aims and Scope Abstracting & Indexing Most Accessed Articles Most Downloaded Articles Most Cited Articles
Required files to be uploaded

Title Page

Original Article
Online Published: 20 Dec 2024
 


Characterization of 3-Hydroxyisobutyryl-Coa Hydrolase (HIBCH) Deficiency in Bahrain: A Retrospective Cohort Study

Emtithal Al jishi, Zahra Al sahlawi, Huda Omran, Mohammed S. Almaliki, Faten Al mahroos, Heba Alkoheji.


Abstract
Background: 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare inborn error of valine catabolism associated with progressive neurological impairment. This retrospective cohort study aimed to characterize the clinical, biochemical, genetic, and respiratory chain profiles of HIBCH deficiency patients in Bahrain.
Methods: Eight HIBCH deficiency patients were evaluated from a larger cohort of 90 individuals assessed for Leigh-like syndrome at the metabolic clinic of Salmaniya Medical Complex, Bahrain, between 2000-2020. Clinical features, neuroimaging findings, biochemical profiles, genetic analyses, and respiratory chain activities were systematically examined.
Results: Developmental delay and acute encephalopathy were the main presenting symptoms. Neuroimaging demonstrated heterogeneous, often progressive basal ganglia and white matter changes. Biochemical profiling revealed elevated C4-OH acylcarnitine, with variable abnormalities in blood lactate, amino acids, and respiratory chain complexes. Genetic analysis identified a novel homozygous HIBCH variant (c.860A>G, p.Asp287Gly) in all patients. Despite clinical interventions, 5 of 8 patients exhibited severe, persistent developmental delay, and 3 patients succumbed to sepsis.
Conclusion: This study provides comprehensive characterization of the clinical, biochemical, and genetic changes in HIBCH deficiency patients in Bahrain, including the identification of a novel genetic variant. The progressive, debilitating nature of this disorder underscores the critical importance of early diagnosis and tailored management strategies for this rare metabolic condition.

Key words: HIBCH Deficiency, Leigh/Leigh-Like Syndrome, C4-OH, Valine Metabolism, Children.


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Emtithal Al jishi
Articles by Zahra Al sahlawi
Articles by Huda Omran
Articles by Mohammed S. Almaliki
Articles by Faten Al mahroos
Articles by Heba Alkoheji
on Google
on Google Scholar


How to Cite this Article
Pubmed Style

jishi EA, sahlawi ZA, Omran H, Almaliki MS, mahroos FA, Alkoheji H. Characterization of 3-Hydroxyisobutyryl-Coa Hydrolase (HIBCH) Deficiency in Bahrain: A Retrospective Cohort Study. JBCGenetics. Online First: 20 Dec, 2024. doi:10.24911/JBCGenetics.183-1722167696

Web Style

jishi EA, sahlawi ZA, Omran H, Almaliki MS, mahroos FA, Alkoheji H. Characterization of 3-Hydroxyisobutyryl-Coa Hydrolase (HIBCH) Deficiency in Bahrain: A Retrospective Cohort Study. https://www.jbcgenetics.com/?mno=211703 [Access: December 21, 2024]. doi:10.24911/JBCGenetics.183-1722167696

AMA (American Medical Association) Style

jishi EA, sahlawi ZA, Omran H, Almaliki MS, mahroos FA, Alkoheji H. Characterization of 3-Hydroxyisobutyryl-Coa Hydrolase (HIBCH) Deficiency in Bahrain: A Retrospective Cohort Study. JBCGenetics. Online First: 20 Dec, 2024. doi:10.24911/JBCGenetics.183-1722167696


Vancouver/ICMJE Style

jishi EA, sahlawi ZA, Omran H, Almaliki MS, mahroos FA, Alkoheji H. Characterization of 3-Hydroxyisobutyryl-Coa Hydrolase (HIBCH) Deficiency in Bahrain: A Retrospective Cohort Study. JBCGenetics, [cited December 21, 2024]; Online First: 20 Dec, 2024. doi:10.24911/JBCGenetics.183-1722167696


Harvard Style

jishi, E. A., sahlawi, . Z. A., Omran, . H., Almaliki, . M. S., mahroos, . F. A. & Alkoheji, . H. (2024) Characterization of 3-Hydroxyisobutyryl-Coa Hydrolase (HIBCH) Deficiency in Bahrain: A Retrospective Cohort Study. JBCGenetics, Online First: 20 Dec, 2024. doi:10.24911/JBCGenetics.183-1722167696


Turabian Style

jishi, Emtithal Al, Zahra Al sahlawi, Huda Omran, Mohammed S. Almaliki, Faten Al mahroos, and Heba Alkoheji. 2024. Characterization of 3-Hydroxyisobutyryl-Coa Hydrolase (HIBCH) Deficiency in Bahrain: A Retrospective Cohort Study. Journal of Biochemical and Clinical Genetics, Online First: 20 Dec, 2024. doi:10.24911/JBCGenetics.183-1722167696


Chicago Style

jishi, Emtithal Al, Zahra Al sahlawi, Huda Omran, Mohammed S. Almaliki, Faten Al mahroos, and Heba Alkoheji. "Characterization of 3-Hydroxyisobutyryl-Coa Hydrolase (HIBCH) Deficiency in Bahrain: A Retrospective Cohort Study." Journal of Biochemical and Clinical Genetics Online First: 20 Dec, 2024. doi:10.24911/JBCGenetics.183-1722167696


MLA (The Modern Language Association) Style

jishi, Emtithal Al, Zahra Al sahlawi, Huda Omran, Mohammed S. Almaliki, Faten Al mahroos, and Heba Alkoheji. "Characterization of 3-Hydroxyisobutyryl-Coa Hydrolase (HIBCH) Deficiency in Bahrain: A Retrospective Cohort Study." Journal of Biochemical and Clinical Genetics Online First: 20 Dec, 2024. Web. 21 Dec 2024 doi:10.24911/JBCGenetics.183-1722167696


APA (American Psychological Association) Style

jishi, E. A., sahlawi, . Z. A., Omran, . H., Almaliki, . M. S., mahroos, . F. A. & Alkoheji, . H. (2024) Characterization of 3-Hydroxyisobutyryl-Coa Hydrolase (HIBCH) Deficiency in Bahrain: A Retrospective Cohort Study. Journal of Biochemical and Clinical Genetics, Online First: 20 Dec, 2024. doi:10.24911/JBCGenetics.183-1722167696




Most Viewed Articles
Most Accessed Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389

  • The role of C-terminal tensin-like (Cten) gene in cancer metastasis
    Saleh Alghamdi, Sarah Alkwai, Mohammad Ilyas
    JBCGenetics. 2018; 1(1): 2-9
    » Abstract » doi: 10.24911/JBCGenetics/183-1531548689

  • Clinical reassessment of post-laboratory variant call format (VCF) files
    Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
    JBCGenetics. 2018; 1(1): 31-36
    » Abstract » doi: 10.24911/JBCGenetics/183-1529928114

  • Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes
    AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
    JBCGenetics. 2018; 1(1): 37-39
    » Abstract » doi: 10.24911/JBCGenetics/183-1530040885

  • Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » doi: 10.24911/JBCGenetics/183-1531469195

    •
    Most Downloaded
    Top Downloaded Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389

  • Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing
    Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini,
    JBCGenetics. 2019; 2(1): 28-39
    » Abstract » doi: 10.24911/JBCGenetics/183-1542047633

  • Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257

  • Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » doi: 10.24911/JBCGenetics/183-1531469195

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923

    •
    Most Cited Articles
    Most Cited Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389
    Cited : 4 times [Click to see citing articles]

  • Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257
    Cited : 4 times [Click to see citing articles]

  • Genomics in Saudi Arabia Call for Data-Sharing Policy
    Ahmed Alfares,
    JBCGenetics. 2018; 1(2): 51-52
    » Abstract » doi: 10.24911/JBCGenetics/183-1546945268
    Cited : 4 times [Click to see citing articles]

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923
    Cited : 2 times [Click to see citing articles]

  • Harel-Yoon syndrome: the first case report from Saudi Arabia
    Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai
    JBCGenetics. 2020; 3(1): 22-27
    » Abstract » doi: 10.24911/JBCGenetics/183-1585816398
    Cited : 2 times [Click to see citing articles]

    •

    About Journal of Biochemical and Clinical Genetics

    The Journal of Biochemical and Clinical Genetics (JBCGenetics) is a peer-reviewed, open access medical journal. Owner:  Saudi Society of Medical ... Read more.



    For best results, please use Internet Explorer or Google Chrome.

    Contact Information

    Title Owner: Saudi Society of Medical Genetics

    https://ssmg.org.sa/en

    Society Email: info@ssmg.org.sa

    Editor in Chief: dralfadhelm@jbcgenetics.com

    Contact the publisher:

    contact@discoverpublish.com
    https://discoverpublish.com/ 

    Publisher: Discover STM Publishing Ltd, 

    82 Leslie's Arch, Old Quarter, Ballincollig, Cork, P31 RY62, Ireland.

    Hours:  M-F: 8:30am - 5:30pm

    Contact Emails:

    Journal Editorial Office:  contact@jbcgenetics.com

    Billing Support:  contact@discoverpublish.com

    Technical Support:
    anastasiia.pavlenco@sofiafields.com
    https://sofiafields.com/ 
    POLICIES & JOURNAL LINKS
    Author Login
    Reviewer Login
    About Publisher
    Advertising Policy
    Author's Rights and Obligations
    Conflict of Interest Policy
    Copyright Information
    Digital Archiving & Preservation Policies
    Editorial Policies
    Peer Review Policy
    Editorial & Peer Review Process
    License Information
    Open Access Policy
    Plagiarism Policy
    Privacy Policy
    Protection of Research Participants (Statement On Human And Animal Rights)
    Publication Ethics and Publication Malpractice Statement
    Corrections, Retractions & Expressions of Concern
    Self-Archiving Policies
    Statement of Informed Consent
    Terms of Use